Ask about this productRelated genes to: UPF3A antibody
- Gene:
- UPF3A NIH gene
- Name:
- UPF3A regulator of nonsense mediated mRNA decay
- Previous symbol:
- -
- Synonyms:
- RENT3A, UPF3, HUPF3A
- Chromosome:
- 13q34
- Locus Type:
- gene with protein product
- Date approved:
- 2003-02-07
- Date modifiied:
- 2019-01-25
Related products to: UPF3A antibody
Related articles to: UPF3A antibody
- The neural cell adhesion molecule NCAM1 is essential for neuronal development and enables organized cell migration, axon growth, and fasciculation. As a result of genome duplication in zebrafish, the paralogs Ncam1a and Ncam1b arose. Our previously published findings using morpholino knockdown experiments demonstrated the essential role of Ncam1b in the development of the zebrafish lateral line system, a mechanosensory organ critical for detecting water movements. ncam1b morphants exhibited severe defects, including impaired primordium migration, disrupted proneuromast deposition, and reduced cell proliferation within the primordium. These defects were linked to a disrupted interaction between Ncam1b and Fgfr1a, which led to compromised proliferation and abnormal lateral line development. The current study reveals that ncam1b mutants, however, unlike morphants, do not show this severe phenotype. Instead, we observed subtle alterations, including altered FGF and Wnt signaling and a redistribution of proliferating cells within the primordium. Notably, ncam1b mutants displayed elevated levels of the paralog ncam1a mRNA. The knockdown of either ncam1a or upf3a in ncam1b mutants resulted in a phenotype resembling that of ncam1b morphants. Upf3a is a key regulator of genetic compensation, a well-known phenomenon in zebrafish research. This supports the hypothesis that upregulated ncam1a compensates for the loss of ncam1b, facilitating normal lateral line development. These findings emphasize the essential role of Ncam1 in zebrafish lateral line development and suggest that the retention of both paralogs, ncam1a and ncam1b, acts as a protective mechanism to ensure the preservation of critical Ncam1 functions after gene duplication. - Source: PubMed
Publication date: 2025/06/19
Lange AnnemarieBastmeyer MartinBentrop Joachim - Hippo-Yap/Taz pathway is essential for tissue regeneration in multiple species. However, we found that in the highly regenerative salamanders, Yap knockout does not compromise the limb regeneration due to genetic compensation response (GCR). Specifically, the mutated Yap locus derived non-sense mRNA, which was recognized by UPF3A to instruct compensatory Taz induction. Blocking Yap mRNA or protein indeed inhibits regeneration. GCR could be utilized to maintain the robustness of limb regeneration. - Source: PubMed
Publication date: 2025/05/31
Yin BinxuYu ChanghaoLiu YangCai HaoWu WenchengYe TingtingWang LeiXiao LujiaZhu YiGuo HuaijuanZhang KunWang Heng - Nonsense-mediated mRNA decay (NMD) plays a crucial role in degrading aberrant transcripts with premature termination codons, with the Up-frameshift (UPF) protein family-UPF1, UPF2, and UPF3A/UPF3B-being vital components of this machinery. While several variants in genes encoding UPF2 and UPF3A/3B have been associated with neurodevelopmental disorders, only three germline UPF1 variants have been reported to date. Here, we report a male patient with a de novo missense variant, p.(Ala526Thr), in a highly conserved helicase motif of UPF1. The patient presented with moderate intellectual disability (ID), atypical autism, attention deficit hyperactivity disorder (ADHD), and behavioral disturbances. The common features observed among the four patients with UPF1 variants are moderate to severe ID and developmental delays in motor and verbal skills. A comparison across the disorders related to the UPF genes suggests that neurodevelopmental delay, including ID and impaired verbal skills, is a common feature, and these disorders may collectively be referred to as UPF-related neurodevelopmental disorders (NDDs). ADHD, autism, seizures, hypotonia, and non-specific dysmorphic features are also reported in some patients, suggesting that these disorders can be classified as non-specific intellectual disability syndromes. However, further studies are necessary to elucidate genotype-phenotype correlations and the molecular mechanisms underlying these rare disorders, particularly those related to UPF1. - Source: PubMed
Publication date: 2025/02/24
Tümer ZeynepDalsberg JonasRønde GitteSørensen Jesper KiehnØstergaard Elsebet - Many patients with colorectal polyposis demonstrate negative results in germline mutation test. This study aimed to uncover genetic variants associated with nonhereditary colorectal polyposis using a genome-wide association study (GWAS). - Source: PubMed
Publication date: 2024/12/04
Ji Jung HyunLee Su HyunJeon Chan IlJang JihunPark JihyePark Soo JungPark Jae JunCheon Jae HeeJee Sun HaKim Tae Il - Nonsense-mediated mRNA decay represents a biologic clearing system against aberrant mRNAs harboring nonsense and frameshift mutations and depends on three factors, UPF1, UPF2, and UPF3 (UPF3A, UPF3B). While germline pathogenic variants of UPF3B and UPF2 are known to be associated with neurodevelopmental disorders, germline variants in UPF1 have not been reported, until date, as being associated with any human disorders. Herein, we report two unrelated patients with de novo UPF1 variants. Patient 1 was a 5-year-old girl with intellectual disabilities, frontal bossing, hypertelorism, high frontal hairline, and thin upper lip. Patient 2 was a 2-year-old female child with intellectual disabilities and similar features. Trio exome analysis revealed a de novo heterozygous variant in UPF1 in both the patients (Patient 1: NM_002911.4): c.949_951del, p.(Asp317del); Patient 2: c.1984G>A, p.(Asp662Asn)). We conducted experiments using Drosophila models to evaluate the functional relevance of these UPF1 variants. Enforced expression of the wild-type Upf1 allele under the control of the pan-neuronal nSyb-GAL4 driver caused mortality, mostly at the pupal stage, but still yielded adult flies. By contrast, expression of the Asp294del (Asp317del in humans) variant caused embryonic or early larval lethality and that of the Asp643Asn (Asp662Asn in humans) caused third instar larval lethality; neither produced pupa nor adult fly. Thus, the developmental defects caused by the variants, especially Asp294del, were more severe than those caused by the wild-type allele. These observations suggest that both variants are deleterious mutations. In conclusion, germline variants in UPF1 are associated with intellectual disabilities in humans. - Source: PubMed
Publication date: 2024/11/19
Nakato DaisukeYasue YuriMatsubara KoheiSuzuki HisatoKosaki RikaTakenouchi ToshikiYamada MamikoMiya FuyukiTakano-Shimizu ToshiyukiKosaki Kenjiro